Allele Registry

Canonical Allele Identifier: PA267492

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -1.8188832747

Score -1.3175875152

Score -1.3438715101

Linked Data - NCBI & NCI

ClinVar Allele:

70298

ClinVar RCV:

RCV000083223

RCV000571563

RCV001326885

RCV002250547

RCV003493430

ClinVar Variation:

55631

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Leu1854Pro	CA003718 NM_007294.4:c.5561T>C